A mutation in mouse Pak1ip1 causes orofacial clefting while human PAK1IP1 maps to 6p24 translocation breaking points associated with orofacial clefting.

A mutation in mouse Pak1ip1 causes orofacial clefting while human PAK1IP1 maps to 6p24 translocation breaking points associated with orofacial clefting.

Orofacial clefts are among the most common birth defects and result in an improper formation of the mouth or the roof of the mouth. Monosomy of the distal aspect of human chromosome 6p has been recognized as causative in congenital malformations affecting the brain and cranial skeleton including oro...

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Bibliographic Details
Main Authors: Adam P Ross, M Adela Mansilla, Youngshik Choe, Simon Helminski, Richard Sturm, Roy L Maute, Scott R May, Kamil K Hozyasz, Piotr Wójcicki, Adrianna Mostowska, Beth Davidson, Iannis E Adamopoulos, Samuel J Pleasure, Jeffrey C Murray, Konstantinos S Zarbalis
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2013-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3723895?pdf=render

Internet

http://europepmc.org/articles/PMC3723895?pdf=render

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